Venue
American Society of Human Genetics 2022
Los Angeles Convention Center
1201 Figueroa St.
Los Angeles, CA 90015
Dates
Oct. 25 – Oct. 29
Booth
622
| Title | Author (BG) | Type | Date / Time / Location |
|---|---|---|---|
| Deep RNAseq for Undiagnosed Disease Diagnosis | Pengfei Liu, PhD | Symposium on New Sequencing Technologies for Clinical and Translational Disease Diagnosis |
Oct. 25 11:45 am – 12:45 pm Meeting Room // 402 AB |
| Validation for Clinical Reporting of Whole Genome Sequencing | Christine Eng, MD | Symposium on New Sequencing Technologies for Clinical and Translational Disease Diagnosis |
Oct. 25 11:45 am – 12:45 pm Meeting Room // 402 AB |
| Microarray analysis using a comprehensive array with enhanced probe coverage for disease genes and SNP probes | Weimin Bi, PhD | Presentation Platform: Sequencing vs. panel testing: Is more better? ProgNbr 477 |
Oct. 28 2:45 pm – 3:00 pm Meeting Room // Petree Hall, West Building |
| Rapid Genome Sequencing (rGS) as first tier test for critically ill children with suspected genetic etiology | Hongzheng Dai, PhD | Presentation Platform: Preconception carrier screening and rapid WGS of newborns ProgNbr 470 |
Oct. 28 3:00 pm – 3:15 pm Meeting Room // 502, West Building |
| Title | Author (BG) | Type | Date / Time / Location |
|---|---|---|---|
| Diagnostic metabolomic profiling of hypomyelinating leukodystrophy caused by DEGS1 deficiency | Charul Gijavanekar, PhD | Poster: Omics Technologies PB2971 |
Oct. 26 3:00 pm – 4:45 pm // Exhibit Hall |
| Exploring the complexity of scleroderma etiology by trio whole genome sequencing | Hongzheng Dai, PhD | Poster: Complex Traits PB1368 |
Oct. 26 3:00 pm – 4:45 pm // Exhibit Hall |
| Mitochondrial variants and short tandem repeat expansions detected by clinical whole genome sequencing | Katharina Schulze, PhD | Poster: Molecular and Cytogenetic Diagnostics PB2326 |
Oct. 26 3:00 pm – 4:45 pm // Exhibit Hall |
| Clinical genome and RNA sequencing with a novel, cheaper sequencing-by-synthesis technology | Pengfei Liu, PhD | Poster: Omics Technologies PB2936 |
Oct. 27 3:00 pm – 4:45 pm // Exhibit Hall |
| Comparison of positive findings between CMA/exome combo and Whole Genome Sequencing: A clinical lab experience | Xiaonan Zhao, PhD | Poster: Molecular and Cytogenetic Diagnostics PB2276 |
Oct. 27 3:00 pm – 4:45 pm // Exhibit Hall |
| Prenatal diagnostic testing in cases of cystic hygroma or increased nuchal translucency: A single center experience | Nichole M. Owen, PhD | Poster: Prenatal, Perinatal, and Developmental Genetics PB2115 |
Oct. 27 3:00 pm – 4:45 pm // Exhibit Hall |
| Combined FISH and cytogenetic testing increases the accuracy of classification and risk stratification of multiple myeloma samples | Janice Smith, PhD | Poster: Cancer PB1050 |
Oct. 27 3:00 pm – 4:45 pm // Exhibit Hall |
| Positive Findings in Clinical Mitochondrial Genome Testing by NGS | Yue Wang, PhD | Poster: Molecular and Cytogenetic Diagnostics PB2339 |
Oct. 27 3:00 pm – 4:45 pm // Exhibit Hall |